Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency)

J Med Genet. 2004 Jul;41(7):550-6. doi: 10.1136/jmg.2003.016923.
No abstract available

Publication types

  • Letter
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carbohydrate Metabolism, Inborn Errors / diagnosis
  • Carbohydrate Metabolism, Inborn Errors / enzymology
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Carbohydrate Metabolism, Inborn Errors / mortality
  • DNA Mutational Analysis / methods
  • Female
  • Glucosyltransferases / deficiency*
  • Glucosyltransferases / genetics*
  • Glycosylation
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics
  • Mutation / physiology
  • Mutation, Missense / genetics
  • Mutation, Missense / physiology
  • RNA Splice Sites / genetics
  • RNA Splice Sites / physiology

Substances

  • RNA Splice Sites
  • ALG8 protein, human
  • Glucosyltransferases

Associated data

  • OMIM/608104